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Table 2 Mutational Results: SNVs, CNVs and Fusions

From: The Glioma-IRE project − Molecular profiling in patients with glioma: steps toward an individualized diagnostic and therapeutic approach

 

Our sample, n (%)

TCGA-Public DB*, n (%)

Treatments options

SNV

n = 99

n = 2861

 

SNV total

• Mutated

38 (38)

1403 (49)

 

• WT

61 (62)

1458 (51)

 

IDH1:

• Mutated

20 (20)

924 (32)

TIER IIC

• WT

79 (80)

1937 (68)

 

IDH2

• Mutated

3 (3)

45 (2)

TIER IIC

• WT

96 (97)

2816 (98)

 

EGFR

• Mutated

8 (8)

341 (12)

TIER IIC

• WT

91 (92)

2520 (88)

 

BRAF

• Mutated

2 (2)

71 (2)

TIER IA, TIER IIC

• WT

97 (98)

2790 (98)

 

PIK3CA

• Mutated

8 (8)

236 (8)

TIER IIC

• WT

91 (92)

2625 (92)

 

FGFR3

• Mutated

1 (1)

33 (1)

TIER IIC

• WT

98 (99)

2828 (99)

 

ERBB2

• Mutated

1 (1)

24 (1)

TIER IIC

• WTWT

98 (99)

2837 (99)

 

KRAS

• Mutated

1 (1)

25 (1)

Basket trials of all tumors

• WT

98 (99)

2836 (99)

 

CNV

n = 99

n = 2861

 

CNV total

• Amplified

35 (35)

770 (27)

 

• WT

64 (65)

2091 (73)

 

EGFR

• Amplified

25 (25)

519 (18)

TIER IIC

• WT

74 (75)

2342 (82)

 

PIK3CA

• Amplified

1 (1)

23 (1)

TIER IIC

• WT

98 (99)

2838 (99)

 

MET

• Amplified

2 (2)

40 (1)

TIER IIC

• WT

97 (98)

2821 (99)

 

CDK4

• Amplified

8 (8)

201 (7)

TIER IIC

• WT

91 (92)

2660 (93)

 

CDK6

• Amplified

2 (2)

36 (1)

TIER IIC

• WT

97 (98)

2825 (99)

 

PDGFRA

• Amplified

3 (3)

156 (6)

 

• WT

96 (97)

2702 (94)

 

KIT

• Amplified

2 (2)

116 (4)

 

• WT

97 (98)

2745 (96)

 

Fusion

n = 99

n = 514**

 

Fusion total

• Yes

21 (21)

11 (2)

 

• No

78 (79)

503 (98)

 

EGFR

• Yes

17 (17)

5 (1)

TIER II C

• No

82 (83)

509 (99)

 

RET

• Yes

1 (1)

0

TIER IA all tumours

• No

98 (99)

514

 

MET

• Yes

2 (2)

2 (1)

TIER II C

• No

97 (98)

512 (99)

 

FGFR3

• Yes

1 (2)

4 (1)

TIER II C

• No

98 898)

510 (99)

 
  1. CNV copy number variants, DB database, GBM glioblastoma multiforme, LGG low-grade glioma, SNV single nucleotide variants, TCGA The Cancer Genome Atlas Program, WT wild-type
  2. TIER: Evidence-based variant categorization into four tiers [20]
  3. *TCGA Pan Cancer Atlas + GLASS Consortium (Nature 2019) + MSK (Clin Cancer Researc2019) + TCGA Firehose Legacy [20,21,22,23,24,25,26,27,28,29,30,31,32,33]
  4. **Only LGG